×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
0.500
CausalMutation
disease
CLINVAR
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.150
GeneticVariation
disease
CLINVAR
ABRAXAS1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
140660
Gene Symbol:
RPL21P4
RPL21P4
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
"A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer."
28265380
2017
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
"Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations."
19340607
2009
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
"Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations."
19340607
2009
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
"Mutational spectrum in breast cancer associated
29021639
2017
×
Entrez Id:
142
Gene Symbol:
PARP1
PARP1
0.010
GeneticVariation
disease
BEFREE
<b>Abbreviations:</b> ACC: acinar cell carcinoma; HBOC: Hereditary Breast and Ovarian Cancer ; LOH: loss of heterozygosity; PARP : poly (ADP-ribose) polymerase; PDAC: pancreatic ductal adenocarcinoma; PP: pancreatic panniculitis; SD: standard deviation; WES: whole-exome sequencing.
31002019
2019
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.010
GeneticVariation
disease
BEFREE
<b>Abbreviations:</b> ACC: acinar cell carcinoma; HBOC: Hereditary Breast and Ovarian Cancer ; LOH: loss of heterozygosity; PARP : poly (ADP-ribose) polymerase; PDAC: pancreatic ductal adenocarcinoma; PP: pancreatic panniculitis; SD: standard deviation; WES: whole-exome sequencing.
31002019
2019
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
BEFREE
<i>BRCA1 /2</i> mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC ), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations.
29487695
2018
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
Biomarker
disease
BEFREE
<i>BRCA1 /2</i> screening in Hereditary Breast and Ovarian Syndrome (HBOC ) is an essential step for effective patients' management.
29570666
2018
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
Biomarker
disease
BEFREE
'Indirect' BRCA1 /2 testing: a useful approach in hereditary breast and ovarian cancer families without a living affected relative.
16098011
2005
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
2157delG: a frequent mutation in BRCA2 missed by PTT.
11106360
2000
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
BEFREE
50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for BRCA1 founder mutation-negatives and subjected to targeted resequencing of BRCA1 and BRCA2 genes.
23767878
2013
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
GeneticVariation
disease
BEFREE
50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for BRCA1 founder mutation-negatives and subjected to targeted resequencing of BRCA1 and BRCA2 genes.
23767878
2013
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
BEFREE
: Hereditary breast and ovarian cancer (HBOC) syndrome is attributed mostly to mutations in the Breast Cancer 1 and Breast Cancer 2 genes (BRCA1 /2).
22048556
2011
×
Entrez Id:
580
Gene Symbol:
BARD1
BARD1
0.400
CausalMutation
disease
CLINVAR
BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.
28174632
2017
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
29339979
2018
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.
29088781
2017
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.
29088781
2017
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
CausalMutation
disease
CLINVAR
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
28283652
2017
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
CausalMutation
disease
CLINVAR
BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.
30425037
2019
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.800
GeneticVariation
disease
BEFREE
Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2.
12442265
2002
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.800
GeneticVariation
disease
BEFREE
Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2 .
12442265
2002